Disease Risk Analysis Using Genetic and Temporal Data Stratification

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Solution Overview

Problem

Current disease risk analysis methods using polygenic risk scores (PRS) struggle to accurately predict disease onset and complication development over time, as they fail to account for individual genetic differences and temporal health data variability, leading to inadequate preventive measures.

Innovation Solution

A disease risk analysis apparatus that acquires genetic and temporal health data, determines thresholds for stratification, generates stratified data, and analyzes temporal data based on set criteria to identify specific observation targets, allowing for detailed analysis of disease risk and complication development.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Ease of operation

If simple PRS stratification is used to analyze temporal data, then the analysis process is simple and easy to implement, but the prediction accuracy of disease risk and complication development is insufficient

Engineering Contradiction:
Improvesimplicity of analysis processVSAvoidprediction accuracy of disease risk
Core Design Contradiction:
Ease of operationVSMeasurement precision

Solution Approach 1:

The patent segments the analysis process into multiple stages: first stratifying temporal data by PRS to identify high-risk individuals, then further stratifying by disease onset timing (early vs. late onset), and finally analyzing complication development within each subgroup. This multi-level segmentation allows for more precise prediction while maintaining systematic organization of the complex analysis process

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent adds temporal dimension to the traditional PRS analysis by incorporating time-stratified data. Instead of analyzing cross-sectional data only, the method analyzes longitudinal health checkup data across multiple time points, adding the time dimension to enable prediction of disease onset timing and complication development trajectories

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

2Measurement precision

If temporal data is collected and analyzed in detail to improve prediction accuracy, then the precision of disease risk prediction is improved, but the complexity of data collection and analysis increases

Engineering Contradiction:
Improveprediction accuracy of disease riskVSAvoidcomplexity of data collection system
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent utilizes existing health checkup data that can serve multiple purposes: the same longitudinal data is used for both PRS stratification and disease onset timing analysis, and further for complication development analysis. This multi-functional use of the same data collection system reduces the need for separate specialized data collection mechanisms

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent performs PRS stratification and identification of high-risk individuals in advance, before detailed temporal analysis is conducted. This preliminary action allows for targeted analysis of temporal data only for those who need it, reducing the overall computational complexity and data processing requirements

Inventive Principle:
Principle #10Preliminary action

3Device complexity

If PRS stratification is used without considering temporal data, then the analysis method is simple, but it cannot capture individual differences in disease progression speed and complication development

Engineering Contradiction:
Improvesimplicity of analysis methodVSAvoidindividual differences in disease progression
Core Design Contradiction:
Device complexityVSLoss of information

Solution Approach 1:

The patent transitions from static cross-sectional PRS analysis to dynamic longitudinal analysis by incorporating time-varying health data. The method tracks changes in health indicators over time within each PRS stratum, enabling detection of individual differences in disease progression speed and complication development trajectories that static analysis would miss

Inventive Principle:
Principle #15Dynamics

Data Source

PatentUS20250014753A1Disease risk analysis apparatus, disease risk analysis method, and storage medium
Publication Date: 2025.01.09 KK TOSHIBA
  • US20250014753A1 patent drawing
  • US20250014753A1 patent drawing
  • US20250014753A1 patent drawing

AI summary

According to one embodiment, a disease risk analysis apparatus includes a processor. The processor acquires healthcare data including genetic score data and temporal data collected over time. The processor determines a threshold for stratifying a genetic score. The processor stratifies the genetic score data based on the threshold. The processor sets a criterion for at least a test value of the temporal data. The processor generates first observation target data from the temporal data. The processor generates starting point data based on the first observation target data and the criterion. The processor determines an observation target from the temporal data. The processor generates second observation target data.